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Euro Gastroenterology 2019 & Clinical Pharmacy 2019 Archives of General Internal Medicine | ISSN: 2591-7951 | Volume 3
Page 50
March 25-26, 2019 | Amsterdam, Netherlands
&
GASTROENTEROLOGY AND HEPATOLOGY
4th International Conference on
CLINICAL PHARMACY & PHARMACY PRACTICE
9th World Congress on
Joint Event on
OF EXCELLENCE
IN INTERNATIONAL
MEETINGS
YEARS
THE SPECTRUM OF HEREDITARY METABOLIC DISORDERS THAT ARE
ASSOCIATEDWITH GASTROINTESTINAL PATHOLOGY
Olena Grechanina, Yu B Grechanina, S V Lesniak and A V Krasov
Kharkiv Interregional Specialized Medical Genetic Center, Ukraine
The number of patients with Hereditary Metabolic Diseases (HMD) has been steadily increasing, but only
50% of them receive the necessary assistance. To overcome these problems, we strive to replace the “spe-
cialized” approach to the patient with the systemic and personalized approach.
Objective: To determine the spectrum of hereditary metabolic diseases that are associated with gastrointesti-
nal pathology based on the systemic pheno- and genotypic assessment of the proband and his family.
The Medical Genetic Center for 20 years (1999-2018) has been conducting a systematic assessment of families,
carrying out the monitoring. During this period, we had 628,971 families (primary-7,269-18,746 annually, data
of 2018). 30,392 consultations were conducted, 9892 of themwere primary. There were 1,457 children and 332
adults with HMD.
The spectrum of gastrointestinal disorders was represented by nausea, vomiting, typical and untypical reflux
syndromes, cyclical vomiting syndrome, recurrent vomiting, abdominal pain, acute gastroenteritis, chronic
diarrhea, celiac disease, malabsorption, Hirschsprung’s disease, hepatomegaly, hepatosplenomegaly, chron-
ic pancreatitis etc. The difference in the frequency of gastrointestinal pathology was established based on
complaints (63%) and based on objective assessment of patient (87%) using clinical, biochemical, molecular
genetic biomarkers and somato-genetic research.
Nosology spectrum associated with gastrointestinal disorders includes urea cycle defects, phenylketonuria,
hypervalinemia, galactosemia, hyperglycemia, isopathic calcinemia, renal tubular acidenemia, disorders of or-
nithine, methionine, cobalamin metabolism, maple syrup diseases, methylmalonic academic, lysinic protein
intolerance, Leigh syndrome, MELAS syndrome, Kearns-Sayre syndrome, neuro-gastrointestinal encephalopa-
thy, congenital lysine intolerance, etc.
Conclusions: A systematic approach based on clinical genomics is the only effective way to provide adequate
medical care to patients who have gastrointestinal disorders as the first signs of HMD.
Olena Grechanina et al., Arch Gen Intern Med 2019, Volume 3 | DOI: 10.4066/2591-7951-C1-023
Olena Grechanina has completed her PhD at the age of 24 years from National Medical University (department of
general medicine) and postdoctoral studies from National Medical University (department of obstetrics and gynecol-
ogy). She is the general director of Kharkiv Interregional Specialized Medical Genetic Center – Center of Rare (Orphan)
Diseases, and is the member-correspondent of National Academy of Medical Sciences and professor of department
of medical genetics.
BIOGRAPHY